Bone mineral density assessment in patients with cystinuria.

Autor: D'Ambrosio V; Università Cattolica del Sacro Cuore, Rome, Italy., Capolongo G; Department of Medical Translational Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Caletti C; Section of Nephrology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy., Vietri MT; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Via L. De Crecchio, 80138, Naples, Italy., Ambrogio M; Università Cattolica del Sacro Cuore, Rome, Italy., Lombardi G; Section of Nephrology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy., Perna AF; Department of Medical Translational Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Orefice G; Department of Medical Translational Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gremese E; Unit of Clinical Immunology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Rheumatology, Università Cattolica del Sacro Cuore, Rome, Italy., Varriano V; Unit of Clinical Immunology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Gatti D; Section of Rheumatology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy., Fassio A; Section of Rheumatology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy., Capasso G; Department of Medical Translational Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.; Biogem Scarl, Ariano Irpino, Italy., Gambaro G; Section of Nephrology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy., Ferraro PM; Section of Nephrology, Department of Medicine, Università Degli Studi Di Verona, Verona, Italy. pietromanuel.ferraro@univr.it.
Jazyk: angličtina
Zdroj: Journal of nephrology [J Nephrol] 2024 Jul 04. Date of Electronic Publication: 2024 Jul 04.
DOI: 10.1007/s40620-024-02012-8
Abstrakt: Background: Cystinuria is a rare genetic disease characterized by impaired tubular transport of cystine. Clinical features of cystinuria mainly include nephrolithiasis and its complications, although cystinuric patients may present with other comorbidities. There are currently no data on bone features of patients with cystinuria. Our aim is to characterize bone mineral density (BMD) in cystinuria.
Methods: Our study included adult cystinuric patients with estimated glomerular filtration rate (eGFR) ≥ 60 mL/min/1.73 m 2 followed at 3 specialized outpatient clinics in Italy (Rome, Naples and Verona). Markers of bone turnover were analyzed in a centralized laboratory. Clinical, biochemical and dual-energy X-ray absorptiometry (DEXA) data were collected from September 2021 to December 2022. Linear regression models were used to evaluate statistically significant deviations from zero of Z-scores.
Results: Twenty-seven patients were included in the study. Mean (SD) age was 37 (15) years, 41% were women. Mean estimated glomerular filtration rate was 99 mL/min/1.73 m 2 . Serum parameters associated with bone turnover (parathyroid hormone, FGF23, calcium and phosphate) were all in the normal range, with only 4 patients showing mild hypophosphatemia. Prevalence of low bone mineral density, defined as Z-score ≤  - 2 at any site, was 15%. Average Z-scores were negative across most sites.
Conclusions: Our study suggests that cystinuric patients have lower bone mineral density compared with individuals of the same sex and age, even when their kidney function is normal.
(© 2024. The Author(s) under exclusive licence to Italian Society of Nephrology.)
Databáze: MEDLINE
Externí odkaz: